Results 181 to 190 of about 218,333 (309)

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

open access: yesThe FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola   +11 more
wiley   +1 more source

3′UTR variants of ALS‐linked RNAs modify subcellular and cellular phenotypes

open access: yesThe FEBS Journal, EarlyView.
Our study demonstrates that alternative 3′UTR variants of ALS‐linked transcripts modulate subcellular RNA localization and cytoskeletal architecture. NEFH 3′UTR‐Long promotes nuclear RNA clustering, while SOD1 3′UTR‐Long reduces filopodia formation. These results suggest that 3′UTRs, independent of coding sequences, can influence neuronal phenotypes ...
Melis Savasan‐Sogut   +2 more
wiley   +1 more source

Case Report: Deletion in the 5' untranslated region of <i>TAFAZZIN</i> in a boy with Barth syndrome. [PDF]

open access: yesFront Cardiovasc Med
Singer ES   +9 more
europepmc   +1 more source

Limited roles of the miR‐17‐92 cluster in the regulation of T‐cell apoptosis

open access: yesThe FEBS Journal, EarlyView.
The pro‐apoptotic protein BIM shapes T‐cell survival and function, but how it is regulated remains unclear. In a mouse model lacking direct miR‐17‐92:Bim interactions, we observed a moderate reduction in Th17 CD4+ T cells. BIM levels were modestly increased in double‐positive thymocytes and naive CD8+ T cells, but this did not affect overall T‐cell ...
Katharina Hoppe   +7 more
wiley   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

open access: yesThe FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio   +12 more
wiley   +1 more source

GCN2 in proteostasis: structural logic, signalling networks and disease

open access: yesThe FEBS Journal, EarlyView.
Threats to protein synthesis activate the kinase GCN2, initiating the integrated stress response (ISR). GCN2 is triggered by stalled ribosomes and uncharged tRNAs, which accumulate when amino acids are scarce. The ISR adjusts cellular physiology by promoting redox balance, protein quality control, and mitochondrial optimisation.
JiaYi Zhu, Stefan J. Marciniak
wiley   +1 more source

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